GPR98

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ADGRV1
Identifiers
Aliases ADGRV1, FEB4, MASS1, USH2B, USH2C, VLGR1, VLGR1b, GPR98, adhesion G protein-coupled receptor V1
External IDs MGI: 1274784 HomoloGene: 19815 GeneCards: ADGRV1
Gene location (Human)
Chromosome 5 (human)
Chr. Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for ADGRV1
Genomic location for ADGRV1
Band 5q14.3 Start 90,529,344 bp[1]
End 91,164,437 bp[1]
RNA expression pattern
PBB GE GPR98 gnf1h07403 at fs.png

PBB GE GPR98 gnf1h01727 s at fs.png

PBB GE GPR98 gnf1h07404 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032119

NM_054053

RefSeq (protein)

NP_115495

NP_473394

Location (UCSC) Chr 5: 90.53 – 91.16 Mb Chr 5: 81.1 – 81.63 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

G protein-coupled receptor 98, also known as GPR98 or VLGR1, is a protein that in humans is encoded by the GPR98 gene.[5] Several alternatively spliced transcripts have been described.[5]

The adhesion GPCR Very Large GPCR receptor 1 (Vlg1R1) is the largest GPCR known, with a size of 6300 amino acids and consisting of 90 exons.[6] There are 8 splice variants of VlgR1, named VlgR1a-1e and Mass1.1-1.3. The N-terminus consists of 5800 amino acids containing 35 Calx-beta domains, one pentraxin domain, and one epilepsy associated repeat. Mutations of VlgR1 have been shown to result in Usher's syndrome. Knockouts of Vlgr1 in mice have been shown to phenocopy Usher's syndrome and lead to audiogenic seizures.

Function[edit]

This gene encodes a member of the adhesion-GPCR family of receptors.[7] The protein binds calcium and is expressed in the central nervous system. It is also known as very large G-protein coupled receptor 1 because it is 6300 residues long. It contains a C-terminal 7-transmembrane receptor domain, whereas the large N-terminal segment (5900 residues) includes 35 calcium binding Calx-beta domains, and 6 EAR domains.

Evolution[edit]

The Sea Urchin genome has a homolog of VLGR1 in it.[8]

Clinical significance[edit]

Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164199 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000069170 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "Entrez Gene: GPR98 G protein-coupled receptor 98". 
  6. ^ Sun, JP; Li, R; Ren, HZ; Xu, AT; Yu, X; Xu, ZG (May 2013). "The very large g protein coupled receptor (vlgr1) in hair cells". J Mol Neurosci. 50 (1): 204–14. doi:10.1007/s12031-012-9911-5. 
  7. ^ Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 1-4419-7912-3. 
  8. ^ Whittakera, Charles A.; Bergerone, Karl-Frederik; Whittlec, James; Bruce, P. (2006). "Brandhorste, Robert D. Burked, Richard O. Hynes. The echinoderm adhesome". Developmental Biology. 300 (1): 252–266. doi:10.1016/j.ydbio.2006.07.044. PMC 3565218Freely accessible. PMID 16950242. 

Further reading[edit]

External links[edit]